Allele Registry

Canonical Allele Identifier: PA916054187

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000286457

RCV000339179

RCV000513122

RCV000551936

ClinVar Variation:

285193

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Arg264His	CA10071456 NM_058175.3:c.791G>A